These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

231 related articles for article (PubMed ID: 36332842)

  • 1. Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
    Huryn LA; Kozycki CT; Serpen JY; Zein WM; Ullah E; Iannaccone A; Williams LB; Sobrin L; Brooks BP; Sen HN; Hufnagel RB; Kastner DL; Kodati S
    Ophthalmology; 2023 Apr; 130(4):423-432. PubMed ID: 36332842
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
    Zhong L; Wang J; Wang W; Wang L; Quan M; Tang X; Gou L; Wei M; Xiao J; Zhang T; Sui R; Zhou Q; Song H
    J Clin Immunol; 2020 Feb; 40(2):350-358. PubMed ID: 31939038
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ROSAH syndrome mimicking chronic uveitis.
    Fardeau C; Alafaleq M; Dhaenens CM; Dollfus H; Koné-Paut I; Grunewald O; Morel JB; Titah C; Saadoun D; Lazeran PO; Meunier I
    Clin Genet; 2023 Apr; 103(4):453-458. PubMed ID: 36543582
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
    Williams LB; Javed A; Sabri A; Morgan DJ; Huff CD; Grigg JR; Heng XT; Khng AJ; Hollink IHIM; Morrison MA; Owen LA; Anderson K; Kinard K; Greenlees R; Novacic D; Nida Sen H; Zein WM; Rodgers GM; Vitale AT; Haider NB; Hillmer AM; Ng PC; Shankaracharya ; Cheng A; Zheng L; Gillies MC; van Slegtenhorst M; van Hagen PM; Missotten TOAR; Farley GL; Polo M; Malatack J; Curtin J; Martin F; Arbuckle S; Alexander SI; Chircop M; Davila S; Digre KB; Jamieson RV; DeAngelis MM
    Genet Med; 2019 Sep; 21(9):2103-2115. PubMed ID: 30967659
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gain-of-function mutations in
    Kozycki CT; Kodati S; Huryn L; Wang H; Warner BM; Jani P; Hammoud D; Abu-Asab MS; Jittayasothorn Y; Mattapallil MJ; Tsai WL; Ullah E; Zhou P; Tian X; Soldatos A; Moutsopoulos N; Kao-Hsieh M; Heller T; Cowen EW; Lee CR; Toro C; Kalsi S; Khavandgar Z; Baer A; Beach M; Long Priel D; Nehrebecky M; Rosenzweig S; Romeo T; Deuitch N; Brenchley L; Pelayo E; Zein W; Sen N; Yang AH; Farley G; Sweetser DA; Briere L; Yang J; de Oliveira Poswar F; Schwartz IVD; Silva Alves T; Dusser P; Koné-Paut I; Touitou I; Titah SM; van Hagen PM; van Wijck RTA; van der Spek PJ; Yano H; Benneche A; Apalset EM; Jansson RW; Caspi RR; Kuhns DB; Gadina M; Takada H; Ida H; Nishikomori R; Verrecchia E; Sangiorgi E; Manna R; Brooks BP; Sobrin L; Hufnagel RB; Beck D; Shao F; Ombrello AK; Aksentijevich I; Kastner DL;
    Ann Rheum Dis; 2022 Oct; 81(10):1453-1464. PubMed ID: 35868845
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dominant cystoid macular dystrophy.
    Saksens NT; van Huet RA; van Lith-Verhoeven JJ; den Hollander AI; Hoyng CB; Boon CJ
    Ophthalmology; 2015 Jan; 122(1):180-91. PubMed ID: 25267528
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
    de Laat P; Smeitink JAM; Janssen MCH; Keunen JEE; Boon CJF
    Ophthalmology; 2013 Dec; 120(12):2684-2696. PubMed ID: 23806424
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.
    Ballios BG; Mandola A; Tayyib A; Tumber A; Garkaby J; Vong L; Heon E; Roifman CM; Vincent A
    Eye (Lond); 2023 Dec; 37(18):3734-3742. PubMed ID: 37225827
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
    Burstedt MS; Ristoff E; Larsson A; Wachtmeister L
    Ophthalmology; 2009 Feb; 116(2):324-31. PubMed ID: 19111905
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Long-term follow-up of a patient with JAG1-associated retinopathy.
    Cheema MR; Stone LG; Sellar PW; Quinn S; Clark SC; Martin RJ; O'Brien JM; Warriner C; Browning AC
    Doc Ophthalmol; 2021 Oct; 143(2):237-247. PubMed ID: 33877487
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
    Hull S; Arno G; Robson AG; Broadgate S; Plagnol V; McKibbin M; Halford S; Michaelides M; Holder GE; Moore AT; Khan KN; Webster AR
    JAMA Ophthalmol; 2016 Sep; 134(9):992-1000. PubMed ID: 27386845
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
    Taylor RL; Arno G; Poulter JA; Khan KN; Morarji J; Hull S; Pontikos N; Rueda Martin A; Smith KR; Ali M; Toomes C; McKibbin M; Clayton-Smith J; Grunewald S; Michaelides M; Moore AT; Hardcastle AJ; Inglehearn CF; Webster AR; Black GC;
    JAMA Ophthalmol; 2017 Apr; 135(4):339-347. PubMed ID: 28253385
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.
    Ozawa K; Mochizuki K; Manabe Y; Yoshikura N; Shimohata T; Nishino I; Goto YI
    Doc Ophthalmol; 2019 Apr; 138(2):147-152. PubMed ID: 30701423
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.
    Toma C; Ruberto G; Marzi F; Vandelli G; Signorini S; Valente EM; Antonini M; Bertone C; Bianchi PE
    Doc Ophthalmol; 2018 Aug; 137(1):25-36. PubMed ID: 29987673
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.
    Hashem SA; Georgiou M; Fujinami-Yokokawa Y; Laich Y; Daich Varela M; de Guimaraes TAC; Ali N; Mahroo OA; Webster AR; Fujinami K; Michaelides M
    Am J Ophthalmol; 2024 Jul; 263():1-10. PubMed ID: 38364953
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
    Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
    Gao Y; Ren X; Lin H; Li K; Xiao L; Wang X; Zeng Z; Ran R; Tao Y; Lin Y; Fu X; Yan N; Zhang M
    Eye (Lond); 2023 Aug; 37(12):2461-2469. PubMed ID: 36509996
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography.
    Cho SC; Woo SJ; Park KH; Hwang JM
    Korean J Ophthalmol; 2013 Feb; 27(1):19-27. PubMed ID: 23372375
    [TBL] [Abstract][Full Text] [Related]  

  • 20. RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
    Georgiou M; Fujinami K; Robson AG; Fujinami-Yokokawa Y; Shakarchi AF; Ji MH; Uwaydat SH; Kim A; Kolesnikova M; Arno G; Pontikos N; Mahroo OA; Tsang SH; Webster AR; Michaelides M
    Am J Ophthalmol; 2024 Feb; 258():119-129. PubMed ID: 37806543
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.